Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Dsg1a'

365381

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dsg1a

Ensembl Gene

ENSMUSG00000069441

Gene Name

desmoglein 1 alpha

Synonyms

Dsg1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

20443930-20476410 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20473381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 818 (I818N)

Ref Sequence

ENSEMBL: ENSMUSP00000076393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077146]

AlphaFold

Q61495

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077146
AA Change: I818N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076393
Gene: ENSMUSG00000069441
AA Change: I818N

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	70	155	3.45e-14	SMART
CA	179	267	3.11e-21	SMART
CA	290	384	6.29e-8	SMART
CA	407	485	6.44e-1	SMART
low complexity region	573	584	N/A	INTRINSIC
low complexity region	590	598	N/A	INTRINSIC
Pfam:Cadherin_C	659	781	1.6e-10	PFAM
low complexity region	786	799	N/A	INTRINSIC
internal_repeat_1	823	888	9.56e-6	PROSPERO
internal_repeat_1	908	975	9.56e-6	PROSPERO
low complexity region	983	1004	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
9530068E07Rik	T	C	11: 52,294,362 (GRCm39)	V209A	possibly damaging	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Atad5	T	A	11: 79,999,405 (GRCm39)	V895D	possibly damaging	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccer1	T	C	10: 97,529,702 (GRCm39)	S122P	unknown	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbm18	C	T	2: 36,012,886 (GRCm39)	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Serbp1	G	A	6: 67,244,103 (GRCm39)	G8D	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	probably damaging	Het

Other mutations in Dsg1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Dsg1a	APN	18	20,473,263 (GRCm39)	missense	probably damaging	1.00
IGL01148:Dsg1a	APN	18	20,453,982 (GRCm39)	missense	probably damaging	0.97
IGL01534:Dsg1a	APN	18	20,474,053 (GRCm39)	missense	probably benign	0.06
IGL01566:Dsg1a	APN	18	20,469,840 (GRCm39)	splice site	probably benign
IGL01582:Dsg1a	APN	18	20,461,905 (GRCm39)	missense	probably null	1.00
IGL01913:Dsg1a	APN	18	20,455,293 (GRCm39)	missense	probably damaging	1.00
IGL01926:Dsg1a	APN	18	20,466,641 (GRCm39)	missense	possibly damaging	0.60
IGL02102:Dsg1a	APN	18	20,465,089 (GRCm39)	missense	probably benign	0.01
IGL02900:Dsg1a	APN	18	20,461,713 (GRCm39)	splice site	probably benign
IGL02937:Dsg1a	APN	18	20,464,591 (GRCm39)	missense	possibly damaging	0.93
IGL03003:Dsg1a	APN	18	20,469,876 (GRCm39)	missense	probably benign	0.43
PIT4687001:Dsg1a	UTSW	18	20,464,755 (GRCm39)	missense	probably benign	0.16
R0126:Dsg1a	UTSW	18	20,473,935 (GRCm39)	missense	probably benign	0.00
R0200:Dsg1a	UTSW	18	20,473,995 (GRCm39)	missense	probably benign	0.00
R0284:Dsg1a	UTSW	18	20,464,684 (GRCm39)	missense	probably damaging	0.98
R0394:Dsg1a	UTSW	18	20,466,807 (GRCm39)	missense	probably damaging	1.00
R0543:Dsg1a	UTSW	18	20,473,920 (GRCm39)	missense	probably damaging	1.00
R0656:Dsg1a	UTSW	18	20,468,949 (GRCm39)	splice site	probably benign
R0733:Dsg1a	UTSW	18	20,471,725 (GRCm39)	missense	probably damaging	0.97
R0750:Dsg1a	UTSW	18	20,473,210 (GRCm39)	missense	probably benign	0.10
R1300:Dsg1a	UTSW	18	20,465,206 (GRCm39)	missense	probably benign	0.19
R1501:Dsg1a	UTSW	18	20,465,076 (GRCm39)	missense	probably damaging	1.00
R1523:Dsg1a	UTSW	18	20,455,374 (GRCm39)	missense	probably damaging	0.99
R1673:Dsg1a	UTSW	18	20,464,561 (GRCm39)	missense	probably damaging	1.00
R1980:Dsg1a	UTSW	18	20,471,707 (GRCm39)	missense	probably damaging	1.00
R2102:Dsg1a	UTSW	18	20,466,830 (GRCm39)	missense	probably damaging	1.00
R2132:Dsg1a	UTSW	18	20,473,854 (GRCm39)	missense	probably damaging	1.00
R2299:Dsg1a	UTSW	18	20,473,207 (GRCm39)	missense	probably damaging	1.00
R2426:Dsg1a	UTSW	18	20,469,861 (GRCm39)	missense	probably damaging	0.96
R3031:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R4044:Dsg1a	UTSW	18	20,457,087 (GRCm39)	missense	probably damaging	1.00
R4075:Dsg1a	UTSW	18	20,473,127 (GRCm39)	missense	possibly damaging	0.53
R4644:Dsg1a	UTSW	18	20,473,785 (GRCm39)	missense	probably benign	0.04
R4661:Dsg1a	UTSW	18	20,473,590 (GRCm39)	missense	probably damaging	0.99
R4816:Dsg1a	UTSW	18	20,466,779 (GRCm39)	missense	probably benign	0.10
R5221:Dsg1a	UTSW	18	20,457,071 (GRCm39)	missense	possibly damaging	0.64
R5257:Dsg1a	UTSW	18	20,453,988 (GRCm39)	missense	probably damaging	1.00
R5360:Dsg1a	UTSW	18	20,474,011 (GRCm39)	missense	probably damaging	0.96
R5547:Dsg1a	UTSW	18	20,469,097 (GRCm39)	critical splice donor site	probably null
R5702:Dsg1a	UTSW	18	20,469,922 (GRCm39)	critical splice donor site	probably null
R5987:Dsg1a	UTSW	18	20,464,599 (GRCm39)	missense	probably damaging	1.00
R6108:Dsg1a	UTSW	18	20,473,304 (GRCm39)	missense	probably benign	0.19
R6170:Dsg1a	UTSW	18	20,469,043 (GRCm39)	missense	probably damaging	0.99
R7018:Dsg1a	UTSW	18	20,461,795 (GRCm39)	missense	possibly damaging	0.48
R7201:Dsg1a	UTSW	18	20,461,368 (GRCm39)	missense	probably damaging	0.98
R7730:Dsg1a	UTSW	18	20,464,768 (GRCm39)	missense	possibly damaging	0.77
R7814:Dsg1a	UTSW	18	20,471,572 (GRCm39)	splice site	probably null
R8185:Dsg1a	UTSW	18	20,473,669 (GRCm39)	missense	probably damaging	1.00
R8297:Dsg1a	UTSW	18	20,465,090 (GRCm39)	missense	probably benign	0.02
R8377:Dsg1a	UTSW	18	20,466,831 (GRCm39)	missense	probably damaging	1.00
R8409:Dsg1a	UTSW	18	20,473,208 (GRCm39)	missense	probably damaging	1.00
R8775:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8775-TAIL:Dsg1a	UTSW	18	20,473,564 (GRCm39)	missense	probably damaging	0.98
R8818:Dsg1a	UTSW	18	20,473,599 (GRCm39)	missense	possibly damaging	0.87
R8821:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R8831:Dsg1a	UTSW	18	20,453,365 (GRCm39)	missense	probably damaging	0.96
R9030:Dsg1a	UTSW	18	20,473,549 (GRCm39)	missense	probably damaging	1.00
R9205:Dsg1a	UTSW	18	20,473,228 (GRCm39)	missense	probably damaging	1.00
R9239:Dsg1a	UTSW	18	20,473,750 (GRCm39)	missense	probably damaging	1.00
R9410:Dsg1a	UTSW	18	20,464,590 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-12-18